A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders

Kim, Soo-Jeong; Silva, Raquel M; Flores, Cindi G; Jacob, Suma; Guter, Stephen; Valcante, Gregory; Zaytoun, Annette M; Cook, Edwin H; Badner, Judith A

doi:10.1186/2040-2392-2-8

Molecular Autism

Table 5 Haplotype analyses for association between quantitative RRB traits and rs2056202-rs2292813 haplotype

From: A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders

	UIC-UF sample (n = 179 probands)				SSC sample (n = 720 probands)
Haplotype (frequency)	A-A (0.163)	A-G (0.056)	G-G (0.781)	Omnibus	A-A (0.107)	A-G (0.045)	G-G (0.849)	Omnibus
Stereotyped behavior
β^a	0.271	-0.062	-0.201	N/A	0.054	0.408	-0.186	N/A
Stat^b	3.400	0.078	2.250	3.380	0.394	11.700	6.650	12.500
EMP1^c	0.062	0.787	0.134	0.184	0.531	0.000	0.009	0.002
Permutation p	0.146	0.955	0.285	0.184	0.802	0.002 ^d	0.022 ^d	0.002 ^d
Self-injurious behavior
β^a	0.285	-0.102	-0.196	N/A	0.010	0.431	-0.165	N/A
Stat^b	3.500	0.203	2.000	3.500	0.014	13.000	5.140	13.100
EMP1^c	0.064	0.644	0.155	0.173	0.914	0.001	0.022	0.003
Permutation p	0.139	0.887	0.319	0.173	0.993	0.002 ^d	0.054 ^e	0.003 ^d
Compulsive behavior
β^a	0.132	-0.222	-0.024	N/A	0.005	0.324	-0.123	N/A
Stat^b	0.734	0.962	0.030	1.440	0.003	7.220	2.810	7.300
EMP1^c	0.389	0.329	0.860	0.487	0.957	0.007	0.095	0.021
Permutation p	0.659	0.581	0.983	0.487	0.998	0.020 ^d	0.209	0.021 ^d
Ritualistic behavior
β^a	0.406	-0.096	-0.298	N/A	0.042	0.242	-0.119	N/A
Stat^b	7.340	0.181	4.720	7.300	0.237	4.080	2.680	4.500
EMP1^c	0.007	0.666	0.032	0.028	0.626	0.043	0.104	0.110
Permutation p	0.020 ^d	0.903	0.078 ^e	0.028 ^d	0.878	0.104	0.222	0.110
Sameness behavior
β^a	0.420	-0.156	-0.284	N/A	0.155	0.223	-0.193	N/A
Stat^b	7.550	0.465	4.140	7.550	3.270	3.470	7.100	7.350
EMP1^c	0.008	0.510	0.043	0.025	0.073	0.065	0.010	0.028
Permutation p	0.017 ^d	0.780	0.103	0.025 ^d	0.164	0.148	0.023 ^d	0.028 ^d
Restricted behavior
β^a	0.293	-0.383	-0.096	N/A	0.166	0.228	-0.202	N/A
Stat^b	3.840	3.000	0.493	5.840	3.790	3.680	7.930	8.160
EMP1^c	0.049	0.088	0.482	0.054	0.053	0.056	0.006	0.019
Permutation p	0.118	0.194	0.759	0.054 ^e	0.121	0.128	0.014 ^d	0.019 ^d
Sum
β^a	0.392	-0.171	-0.260	N/A	0.084	0.349	-0.188	N/A
Stat^b	6.530	0.541	3.410	6.580	0.941	8.130	6.470	9.630
EMP1^c	0.011	0.465	0.069	0.040	0.325	0.006	0.012	0.009
Permutation p	0.029 ^d	0.735	0.154	0.040 ^d	0.577	0.012 ^d	0.031 ^d	0.009 ^d

^aStandardized regression coefficient (negative value indicates negative correlation).
^bWald test was used to compare tested haplotype with the remaining haplotypes.
^cUncorrected single-point P value.
Permutation p value: ^dp < 0.05; ^ep < 0.1. N/A: not applicable

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ISSN: 2040-2392

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